DisGeNET - a database of gene-disease associations

List of associated variants

Blood Sedimentation, C0005833

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs10903129	MACO1			1	25442446	intron variant	A/G	snv		0.58	4
rs12034383	CR1			1	207630250	intron variant	G/A	snv		0.47	3
rs4910742	HBG2 ; HBE1			11	5285279	intron variant	G/A;T	snv			3
rs1043879	RSRP1			1	25243590	missense variant	T/C	snv	0.20	0.19	3
rs140142800		1.000	0.120	10	61036479	regulatory region variant	C/T	snv		2.2E-02	2
rs12034598	CR1			1	207584170	intron variant	A/G	snv		0.19	2
rs7527798	CR1L			1	207698945	intron variant	T/C	snv		0.18	2
rs3091242	TMEM50A			1	25348294	intron variant	C/T	snv		0.43	2